Article
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
The Journal of investigative dermatology - 1 Jun 2010
Soufir Nadem, Ged Cecile, Bourillon Agnes, Austerlitz Frederic, Chemin Cécile, Stary Anne, Armier Jacques, Pham Daniele, Khadir Khadija, Roume Joelle, Hadj-Rabia Smail, Bouadjar Bakar, Taieb Alain, de Verneuil Hubert, Benchiki Hakima, Grandchamp Bernard, Sarasin Alain
Abstract excerpt
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder that is associated with an inherited defect of the nucleotide excision repair pathway (NER). In this study, we investigated the involvement of XP genes in 86 XP patients belonging to 66 unrelated families, most of them consanguineous and originating from Maghreb. Sequencing analysis was performed either directly (44 probands) or after having...
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